The changing landscape of personalised cancer medicine

By Philippa Brice

10 September 2014


Multinational DNA sequencing company Illumina and four major US centres for cancer research have established a new Actionable Genome Consortium (AGC) with the purpose of defining the principles and content of the ‘cancer actionable genome’.

This is described as the ‘comprehensive description of genomic alterations that define individual patients’ tumours’; it is hoped that finding an agreed, common description of and standards for this actionable genome will help clinicians (oncologists and pathologists) to decide on the best testing and treatment approaches for a given patient. Cancer is arguably the single most advanced form of medicine within which effective personalised or precision medicine underpinned by genomic information is rapidly becoming an everyday reality.

Personalised cancer medicine

The serious clinical implications of most forms of cancer (and their therapeutic options) mean that getting diagnosis, prognosis and treatment choices right are vital; the unique genomic signatures of tumours provide invaluable information to precisely identify the type of tumour present. In many cases, new biological therapeutics can specifically target unique genetic features of tumours. This increases the efficacy of the treatment and decreases adverse side-effects for the patient – potentially cost-effective despite the typically high price tag for targeted therapeutics.

However, before such treatments can be used an appropriate companion diagnostic test must be done to determine whether or not the patient’s tumour has the genetic features targeted by the treatment. There is also increasing scope to monitor the progress of treatment using genomic data.

Reaching consensus on clinical decision-making

At present, there is already widespread variation in what genomic findings are considered to be clinically actionable; with new data from DNA sequencing emerging daily, clinical interpretation of genomic analyses is a challenging issue, even for experts. The new collaboration aims to lay the groundwork for a guide to best practices in genetic tumour characterisation and decision-making in clinical oncology. This will include recommendations for:

  • best practices for biopsy, sample storage and transport, and extraction
  • technical performance st andards for DNA sequencing
  • standards for variant calling, annotation and interpretation
  • guidelines for the format and content of clinical reports

It is hoped that these recommendations of the AGC will lead to widely accepted clinical guidelines, and ultimately underpin the development of new genomic cancer diagnostics, ongoing regulatory oversight and healthcare insurance reimbursement (funding) of genomic testing for cancer. It also plans to lead ‘novel collaborative, cross-institutional projects aimed at grand challenges in molecular oncology’.

Senior Vice President & Chief Medical Officer of Illumina Dr Rick Klausner, who was previously Director of the US National Cancer Institute, said:  “The AGC represents an extraordinary gathering of experts and decision-makers in clinical and molecular oncology, pathology and technology who, by proposing the standards by which every tumor will be sequenced, will move the field of clinical oncology into the era of precision”.

New approaches to companion diagnostics

Illumina recently said that it was partnering with selected major pharmaceutical companies to produce a new multi-purpose gene panel companion diagnostic that would assess multiple common cancer-related genetic variants. This new universal next-generation sequencing (NGS)-based oncology test would be initially used within clinical trials of potential new cancer therapeutics in development by the partner companies, but ultimately marketed as a test to inform clinicians whether or not a patient would benefit from a range of available biologically targeted therapeutics. This is a new development; whilst panel-based genetic tests are widely used for other diagnostic investigations, companion diagnostics have previously been produced as adjuncts to specific new therapeutics.

Richard Klausner told Forbes recently that the partnerships around the universal companion diagnostic panel would include technical, regulatory and commercial elements. Recent moves on the part of regulators such as the FDA to prepare for personalised medicine are a promising sign, but further adaptations in the US, UK and other countries may be needed if the market moves from a ‘companion diagnostic’ model to what Klausner terms ‘compa nion therapeutic’ approaches.

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